{
  "abstract": "Transthyretin amyloidosis (ATTR) is an underdiagnosed multisystem disease. More than 140 known mutations are pathologic, and organ tropism can vary significantly based on the causative mutation. An elderly man with neuropathy and congestive heart failure was found to have left ventricular hypertrophy on echocardiogram. Subsequent endomyocardial biopsy demonstrated transthyretin amyloid deposition. On referral to our centre, genetic testing was performed, demonstrating a missense mutation, c.229G>A, that results in the amino acid substitution p.Gly77Arg. This mutation had only been reported in one other case of amyloidosis internationally. Cascade genetic testing ensued, which resulted in multiple family members having the same mutation with varying stages of disease activity. This case highlights the importance of genetic testing for all individuals diagnosed with ATTR regardless of age and the variable organ tropism of the disease.",
  "authors": [
    {
      "affiliations": [
        "Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"
      ],
      "name": "Jake Goldstein"
    },
    {
      "affiliations": [
        "Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"
      ],
      "name": "Leah Stinson"
    },
    {
      "affiliations": [
        "Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"
      ],
      "name": "Konstantinos Sideris"
    },
    {
      "affiliations": [
        "Division of Cardiovascular Medicine, Department of Internal Medicine, The University of Utah School of Medicine, Salt Lake City, Utah, USA"
      ],
      "name": "Jill Waldron"
    },
    {
      "affiliations": [
        "Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"
      ],
      "name": "Ryan Mooney"
    },
    {
      "affiliations": [
        "Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"
      ],
      "name": "Kelsey Barrell"
    },
    {
      "affiliations": [
        "Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"
      ],
      "name": "Amandeep Godara"
    },
    {
      "affiliations": [
        "Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"
      ],
      "name": "Spencer Carter"
    }
  ],
  "title": "Hereditary transthyretin amyloidosis caused by a rare mutation",
  "uid": "45b16d4a-fc71-5526-9afb-e8fc2eb2842b"
}